PELP1 proline, glutamate and leucine rich protein 1

Information
Symbol
PELP1
Type
protein-coding
Description
proline, glutamate and leucine rich protein 1
Entrez Gene ID
27043
Genome
hg19
Position
chr17:4,573,069-4,607,432
Genome
hg38
Position
chr17:4,669,774-4,704,137
MIM
609455 OMIM
HGNC
HGNC:30134 HGNC
Ensembl
ENSG00000141456 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 12
Uncertain significance 0 38
Ranking
ClinVar
0
0
0
48
2
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM MNAR
SYNONYM P160
MIM 609455 OMIM
HGNC HGNC:30134 HGNC
Ensembl ENSG00000141456 Ensembl
AllianceGenome HGNC:30134
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000436683.6 hg38 chr17 4,671,385 4,704,337 32,953
ENST00000574876.5 hg38 chr17 4,671,385 4,704,129 32,745
ENST00000301396.8 hg38 chr17 4,671,385 4,704,337 32,953
ENST00000572293.7 hg38 chr17 4,669,774 4,704,137 34,364
ENST00000572293.7 hg19 chr17 4,573,069 4,607,432 34,364
ENST00000574876.5 hg19 chr17 4,574,680 4,607,424 32,745
ENST00000301396.8 hg19 chr17 4,574,680 4,607,632 32,953
ENST00000436683.6 hg19 chr17 4,574,680 4,607,632 32,953
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